Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the diaphragm (HP:0000775)

Parent Node:
Abnormal hemidiaphragm morphology (HP:0040045)

..Starting node
..Abnormal left hemidiaphragm morphology (HP:0040046)

Term ID:

40046

Name:

Abnormal left hemidiaphragm morphology

Synonym:

Abnormality of the left hemidiaphragm

Definition:

Comments:

Reference:

HP:0040046

Genes and Diseases:

Child Nodes:

........

Aplasia of the left hemidiaphragm (HP:0040048)

................... HP:0009112 Absent left hemidiaphragm

Sister Nodes:

Abnormal right hemidiaphragm morphology (HP:0040047)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040046	HP:0040046	Abnormal left hemidiaphragm morphology	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0040046	HP:0040046	Abnormal left hemidiaphragm morphology	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	37
HP:0040046	HP:0040046	Abnormal left hemidiaphragm morphology	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16	34
HP:0040046	HP:0040046	Abnormal left hemidiaphragm morphology	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5	13
HP:0040046	HP:0040046	Abnormal left hemidiaphragm morphology	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME	177
HP:0040046	HP:0009112	Aplasia of the left hemidiaphragm	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0040046	HP:0009112	Aplasia of the left hemidiaphragm	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	37
HP:0040046	HP:0009112	Aplasia of the left hemidiaphragm	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16	34
HP:0040046	HP:0009112	Aplasia of the left hemidiaphragm	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5	13
HP:0040046	HP:0009112	Aplasia of the left hemidiaphragm	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME	177

Genes (5) :ALDH1A2 GATA6 NDUFAF5 NR2F2 WT1

Diseases (5) :OMIM:620025 OMIM:600001 OMIM:618238 OMIM:618901 OMIM:608978

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.